Canonical Allele Identifier: CA344645691

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364588C>G (hg19) ; chr1:g.220191246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191246C>G , CM000663.2:g.220191246C>G	GRCh38
NC_000001.10:g.220364588C>G , CM000663.1:g.220364588C>G	GRCh37
NC_000001.9:g.218431211C>G	NCBI36
NG_015837.1:g.86256G>C
NG_015837.2:g.86256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1309G>C	ENSP00000509457.1:p.Glu437Gln
ENST00000685664.1:c.1309G>C	ENSP00000509121.1:p.Glu437Gln
ENST00000686381.1:c.1045G>C	ENSP00000509555.1:p.Glu349Gln
ENST00000687065.1:c.1045G>C	ENSP00000510408.1:p.Glu349Gln
ENST00000687394.1:n.1415G>C
ENST00000687647.1:c.1045G>C	ENSP00000509205.1:p.Glu349Gln
ENST00000688035.1:n.1724G>C
ENST00000690315.1:c.1210G>C	ENSP00000509834.1:p.Glu404Gln
ENST00000690373.1:n.1648G>C
ENST00000690379.1:n.1339G>C
ENST00000690824.1:c.1309G>C	ENSP00000510709.1:p.Glu437Gln
ENST00000691661.1:c.1321G>C	ENSP00000510185.1:p.Glu441Gln
ENST00000691862.1:c.1207G>C	ENSP00000509291.1:p.Glu403Gln
ENST00000692813.1:c.1309G>C	ENSP00000509080.1:p.Glu437Gln
ENST00000692972.1:c.1384G>C	ENSP00000510753.1:p.Glu462Gln
ENST00000693454.1:n.519G>C
ENST00000693602.1:n.1402G>C
ENST00000358951.7:c.1309G>C MANE Select	ENSP00000351832.2:p.Glu437Gln
ENST00000358951.6:c.1309G>C	ENSP00000351832.2:p.Glu437Gln
ENST00000478976.1:n.292-821G>C
NM_012414.3:c.1309G>C	NP_036546.2:p.Glu437Gln
NM_012414.4:c.1309G>C MANE Select	NP_036546.2:p.Glu437Gln